|OBO ID: DOID:0080730|
|Term Name:||Ehlers-Danlos syndrome cardiac valvular type||Search Ontology:|
|Definition:||An Ehlers-Danlos syndrome that is characterized by severe problems with heart valves and that has_material_basis_in homozygous or compound heterozygous mutation in the COL1A2 gene on chromosome 7q21. https://pubmed.ncbi.nlm.nih.gov/16816023/|
|Ontology:||Human Disease (DOID:0080730)|
|is a type of:||
OTHER Ehlers-Danlos syndrome cardiac valvular type PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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